Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

Abstract

Abstract Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of one of the sisters, all with suspected bone dysplasia.

Keywords

• bone disease
• cleidocranial dysplasia
• orphan disease
• rare disease